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Netherton syndrome; trichorrhexis invaginata; bamboo hair
Epidemiology:
1) rare
2) presents in 1st 6 weeks of life
3) occurs mostly in females
Pathology:
- chronic skin inflammation
- congenital ichthyosis
- hair shaft abnormalities (bamboo hair)
- anomalies of the immune system
* image [3]
Genetics:
- autosomal recessive
- mutations in the SPINK5 gene (5q31-32)
Clinical manifestations:
- congenital ichthyosiform erythroderma
- trichorrhexis invaginata or trichorrhexis nodosa (bamboo hair)
- atopic dermatitis, pruritus
- some infants develop progressive hypernatremic dehydration, failure to thrive, & enteropathy
- scaling & exfoliation
- variability in symptoms
* image [3]
Laboratory:
- serum sodium: hypernatremia
Differential diagnosis:
1) erythrodermic psoriasis
2) nonbullous congenital ichthyosiform erythroderma
3) other infantile erythrodermas.
Complications:
- high postnatal mortality due to infections (sepsis) & dehydration
Management:
1) symptomatic treatment
- emollients
- keratolytic agents
- antibiotics
- topical glucocorticoids
- topical tacrolimus or pecrolimus may result in toxicity in children
2) prognosis:
- some patients have survived into adulthood, others have died as infants
- treatment in general not effective
- management consists to treatment of symptoms & complications
Related
serine protease inhibitor Kazal-type 5; lympho-epithelial Kazal-type-related inhibitor; LEKTI; contains: hemofiltrate peptide HF6478; hemofiltrate peptide HF7665 (SPINK5)
General
genetic disease of the skin (genodermatosis)
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 256500
References
- Chen TA and Robles DT
Trichorrhexis Invaginata (Netherton Syndrome or Bamboo Hair)
eMedicine
http://emedicine.medscape.com/article/1071656-overview
- OMIM :accession 256500
- Drivenes JL, Bygum A
Images in Dermatology. Netherton Syndrome
JAMA Dermatol. 2022;158(11):1315.
https://jamanetwork.com/journals/jamadermatology/fullarticle/2796422